Maria Rubinwhose son Willie has severe
factor VIII deficiency was one of the only consumers
in a sea of healthcare providers attending a 1992 meeting
on inhibitors. A German doctor explained the results of several
European studies of immune tolerance induction (ITI), a new
treatment that rid many hemophilia patients of inhibitors.
Four-year-old Willie had developed inhibitors to his factor
VIII regimen, and Maria wanted to learn about treatment alternatives.
ITI sounded promising. Maria contacted her sons hematologist
as soon as she got home from the meeting. Several months
later, after Willies doctor had consulted with experts
on ITI and worked with Marias insurance company to
cover the procedure, Willie Rubin received ITIone year
before anyone else at the HTC in Tampa, Florida. No more
Marias brother had severe hemophilia
A. In their small town in northern Peru, cryoprecipitate
was the only treatment available to him, a treatment he began
at age 10. By that time his joints had already sustained
serious damage. Willies inhibitors brought back memories
of her brother as a child, and she educated herself to ensure
her son would receive better care than her brother had.
"I attend every meeting I can," says Maria. "Theres
always something new to learn." When a friends
hemophilic son was having knee troubles, Maria attended sessions
about physical therapy and told her friend what she had learned,
encouraging her to take her son to a physical therapist.
At NHFs 1997 Annual Meeting, in New Orleans, Maria
attended the provider session on gene therapy. Willies
hematologist was also in New Orleans. After attending the
provider sessions on women with bleeding disorders, she recommended
that Maria be tested for the level of factor in her blood.
Is Maria a symptomatic carrier? The answer
seems to depend on whom you ask. She doesnt experience
bleeding episodes, but shes always had heavy periods.
Shes reluctant to say she "bruises easily," because,
as she says, "Whats normal?" Even after being
diagnosed with anemia, she never felt exhaustedat least
no more exhausted than she expected to be with two children,
a husband, and a full-time job!
Marias daughter is a carrier, but at
14 years old, Rachelle is private and reluctant to talk to
her mom about unusual bleeding. Maria tries to keep an eye
out for signs of heavy or prolonged bleeding in Rachelle
and hopes Rachelle will seek guidance from her doctor.
As Willie, now 11 years old and free of inhibitors,
continues to gain independence, Maria continues learning
about the latest developments in hemophilia research and
talking to Willies hematologist about new types of
treatment. She knows her brother would have been thrilled
to see Willie running and playing like any other boy.